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Article

Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2.

American journal of medical genetics. Part A - 1 Nov 2020

Schneeberger Pauline E, Nayak Shalini S, Fuchs Sigrid, Kutsche Kerstin, Girisha Katta M

Abstract excerpt

Roberts syndrome (also known as Roberts-SC phocomelia syndrome) is an autosomal recessive developmental disorder, characterized by pre- and postnatal growth retardation, limb malformations including bilateral symmetric tetraphocomelia or mesomelia, and craniofacial dysmorphism. Biallelic loss-of-function variants in ESCO2, which codes for establishment of sister chromatid cohesion N-acetyltransferase 2, cause...

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PMID: 32783269
DOI: 10.1002/ajmg.a.61826

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Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2.PMID 32783269Read ↗

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Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesionSemantic proximity Read ↗

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